Canonical Allele Identifier: CA196756570
Gene: KRT18P13 HGNC NCBI
PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs56200116
gnomAD v2: 9-100462412-C-T
gnomAD v3: 9-97700130-C-T
gnomAD v4: 9-97700130-C-T
MyVariant Identifiers: chr9:g.100462412C>T (hg19) chr9:g.97700130C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97700130C>T , CM000671.2:g.97700130C>T GRCh38
NC_000009.11:g.100462412C>T , CM000671.1:g.100462412C>T GRCh37
NC_000009.10:g.99502233C>T NCBI36
NG_011642.1:g.2280G>A , LRG_471:g.2280G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000400056.3:n.686C>T (KRT18P13)
NR_147055.1:n.1501-59G>A (PTCSC2)
Search 100 bp 5'
Search 100 bp 3'